AT_1R基因及CYP基因多态性与妊娠期高血压疾病的相关性  

Relationship between the gene polymorphism of AT_1R,CYP and hypertensive disorder complicating pregnancy

作　　者：李宏芬[1] 牛建清[1] 沈志霞[1] 张蕴霞[1] 代琪[1] 王健[1] 范淑英[1] 

机构地区：[1]华北煤炭医学院附属开滦医院,河北唐山063000

出　　处：《山东医药》2008年第26期23-25,共3页Shandong Medical Journal

基　　金：河北省科学技术研究与发展指导计划项目(0527611008)

摘　　要：目的探讨妊娠期高血压疾病的分子遗传学机制。方法采用聚合酶链反应—限制性内切酶片段长度多态性技术(PCR-RFLP)分别检测87例妊娠期高血压疾病患者(观察组)和175例正常人(对照组)血管紧张素Ⅱ-1型受体(AT1R)基因A1166-C和醛固酮合成酶(CYP11B2)基因-344 T/C突变位点基因型。基因型及等位基因患妊娠期高血压疾病的风险率以比数比(OR)与95%可信区间(95%CI)表示。结果观察组中AT1R基因的AC基因型频率为33.3%,C等位基因频率为17.2%,相对于AA基因型、A等位基因,OR值分别为1.803、1.711;CYP11B2基因的TC和CC基因型频率分别为40.2%和17.2%,C等位基因频率为37.4%,相对于TT基因型、T等位基因,OR值分别为1.577、6.081、2.114;AT1R和CYP11B2联合基因型分析显示,相对于AA-TT联合基因型,同时携带AC-TC、AA-CC、AC-CC联合基因型的OR值分别为2.407、6.296、7.870。结论AT1R基因1166C和CYP11B2基因-344C点突变的等位基因可能增加妊娠期高血压疾病的遗传易感性;二者可能共同参与妊娠期高血压疾病的发生。Objective To investigate the relationship between polymorphism of A（1166） C angiotensin Ⅱ type 1 receptor（ AT1 R） genes and -344T/C aldosterone synthase（CYP11B2） gene in patients with hypertensive disorder complicating pregnancy. Methods 87 patients with hypertensive disorder complicating pregnancy and 175 normal controls were collected. The genotype for A（ 1166）C of AT1R and -334T/C of CYP11B2 were determined by polymerase chain reaction （PCR） and restriction fragement length polymorphism（RFLP） respectively. Results In case,odds ratios（OR） calculated for those exposed to AC genetype, C allele was 1. 803,1.711 respectively in AT1R gene; OR calculated for those exposed to TC genotype frequency, CC genotype frequency and C allele was 1. 577,6.081 and 2.114 in CYP11 B2 gene;In the same case, the OR of combinational AC-TC gene, AA-CC gene and AC-CC gene was 2.407,6.296 and 7. 870 respectively. There is no statistical difference in the other combination genes （P 〉 0.05）. Conclusion The site mutation allele gene of AT1R （1166C） and CYP11 B2 （-344TC） might increase the susceptibility of hypertensive disorder complicating pregnancy, which may play an important role in the development of hypertensive disorder complicating pregnancy.

关 键 词：妊娠期高血压疾病 血管紧张素Ⅱ-1型受体基因 醛固酮合成酶基因 基因多态性 

分 类 号：R972.6[医药卫生—药品] R714.246[医药卫生—药学]